Copy number variations in RNF216 and postsynaptic membrane–associated genes are associated with bipolar disorder: a case‐control study in the Japanese population
2024

Genetic Variations Linked to Bipolar Disorder in Japanese People

Sample size: 4704 publication 10 minutes Evidence: moderate

Author Information

Author(s): Nakatochi Masahiro, Kushima Itaru, Aleksic Branko, Kimura Hiroki, Kato Hidekazu, Inada Toshiya, Torii Youta, Takahashi Nagahide, Yamamoto Maeri, Iwamoto Kunihiro, Nawa Yoshihiro, Iritani Shuji, Iwata Nakao, Saito Takeo, Ninomiya Kohei, Okochi Tomo, Hashimoto Ryota, Yamamori Hidenaga, Yasuda Yuka, Fujimoto Michiko, Miura Kenichiro, Ohi Kazutaka, Shioiri Toshiki, Kitaichi Kiyoyuki, Itokawa Masanari, Arai Makoto, Miyashita Mitsuhiro, Toriumi Kazuya, Takahashi Tsutomu, Suzuki Michio, Kato Takahiro A., Kanba Shigenobu, Horikawa Hideki, Kasai Kiyoto, Ikegame Tempei, Jinde Seiichiro, Kato Tadafumi, Kakiuchi Chihiro, Yamagata Bun, Nio Shintaro, Kunii Yasuto, Yabe Hirooki, Okamura Yasunobu, Tadaka Shu, Fumihiko Ueno, Obara Taku, Yamamoto Yasuyuki, Arioka Yuko, Mori Daisuke, Ikeda Masashi, Ozaki Norio

Primary Institution: Nagoya University Graduate School of Medicine

Hypothesis

The study evaluates the relationship between bipolar disorder and rare copy number variations (CNVs) in synaptic genes.

Conclusion

The study found that CNVs in the RNF216 gene and postsynaptic membrane-related genes are associated with an increased risk of bipolar disorder.

Supporting Evidence

  • Patients with bipolar disorder showed a higher frequency of CNVs in RNF216 compared to controls.
  • Gene-based analysis identified significant associations between CNVs in synaptic genes and bipolar disorder.
  • Previous studies have linked CNVs to other psychiatric disorders, suggesting a common genetic risk factor.

Takeaway

Scientists looked at the genes of people with bipolar disorder and found some tiny changes that might make them more likely to have this condition.

Methodology

The study used array comparative genome hybridization to detect CNVs in patients with bipolar disorder and healthy controls.

Potential Biases

Potential biases may arise from the selection of control participants and the reliance on self-reported data.

Limitations

The study may not have detected short CNVs and relied on array-based methods which have limitations in resolution.

Participant Demographics

The study included 1857 patients with bipolar disorder and 2847 healthy controls, primarily of Japanese descent.

Statistical Information

P-Value

0.003

Confidence Interval

1.66–14.89

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1111/pcn.13752

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